Screening for common CFTR mutations in Palestinian cystic fibrosis patients

العناوين الأخرى

الكشف عن الطفرات الشائعة لمرض التليف الكيسي في فلسطين

مقدم أطروحة جامعية

Azzarah, Ayat Naim Ismail

مشرف أطروحة جامعية

al-Sharif, Fadl Akram

الجامعة

الجامعة الإسلامية

الكلية

كلية العلوم

القسم الأكاديمي

قسم العلوم الحياتية

دولة الجامعة

فلسطين (قطاع غزة)

الدرجة العلمية

ماجستير

تاريخ الدرجة العلمية

2017

الملخص الإنجليزي

Problem: Cystic Fibrosis (CF) is a severe life threatening inherited disease characterized by dysfunction of the exocrine glands.

The disease is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene the product of which is responsible for the transport of chloride ions across the membranes of epithelial cells.

In Palestine, mutations in CFTR gene are not fully identified.

Objectives: The present study aims to identify the common CFTR mutations in Gaza Strip.

Methodology: This study was performed on blood genomic DNA samples from 30 patients (18 males and 12 females) residing in Gaza who were clinically diagnosed with cystic fibrosis.

Several polymerase chain reaction (PCR) techniques such as the amplification refractory mutation system (ARMS), tetra-primer ARMS-PCR and restriction fragment length polymorphism (RFLP-PCR) were applied to examine the following mutations: 508delF, W1282X, 3120+1kb, S549R, 1548delG, I1234V, 711+1G, G115X, 4010del4 and H139L.

Results: Of the 60 studied alleles, four mutations were detected.

The most common mutations were: 508delF and G115X (6.67% each), followed by W1282X (5%) and 3120+1kb (1.67%).

Conclusions & Recommendations: Identification of CFTR mutations in the Palestinian CF population is necessary to set up feasible molecular diagnostics, genetic counseling and patient management.

التخصصات الرئيسية

الأحياء

عدد الصفحات

59

قائمة المحتويات

• APA
• MLA
• AMA

لغة النص

الإنجليزية

نوع البيانات

رسائل جامعية

رقم السجل

BIM-902793